HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438689.2:p.[His316Met;Pro319_Val345delinsLeuArgArgArgTrpAlaSerArgLeuGlnThrGlnGlnArgCysSerLeuMetGluTyrGlyCysHisArgArgThrCys] |
CA2697557229
ENST00000543245.6:c.946del
|